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Summary
HYPERPROLINEMIA, TYPE II
HP II
239510
OMIM = Online Medalian Inheritance of Men
79101
1p36.13
  • no treatment indicated/recommended
rare
autosomal recessive
2 types: - type I hyperprolinaemia (MIM 239500) - type II hyperprolinaemia (MIM 239510)
symptoms
Amino acids, plasma
Amino acids, urine
mental retardation
no clinical signs or symptoms
renal failure, acute/chronic
seizures
laboratory finding
Proline500.003000.00110.00417.00-Ámol/lplasma
Proline2000.0040000.0021.00213.00+Ôé¼mol/lurinenewborn
Pyrroline-5-carboxylic dehydrogenase 100.00not detectablelymphocytes
Glycine 0.00950.00increasedurine
Hydroxyproline0.000.0020.00320.00increasedurinenewborn
Ornithine increasedserum
EEG abnormalities -
Literature
Koike KThe gene encoding human 2-oxoglutarate dehydrogenase: structural organization and mapping to chromosome 7p13-p14Gene1592261-2661995
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Tiranti Vet al.Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix proteinAm J Hum Genet742239-2522004
Stacpoole PWet al.Treatment of congenital lactic acidosis with dichloroacetateArch Dis Child770535-5411997
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
McGowan KAet al.The role of methionine in ethylmalonic encephalopathy with petechiaeArch Neurol614570-5742004
Hwu WLet al.Molecular chaperones affect GTP cyclohydrolase I mutations in dopa-responsive dystoniaAnn Neurol556875-8782004
Ozand PTet al.Ethylmalonic aciduria: an organic acidemia with CNS involvement and vasculopathyBrain Dev Suppl16012-221994
Kleijer WJet al.Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated familiesJ Inher Met Dis250399-4102002